Diseases

Transitional cell carcinoma

Transitional cell carcinoma (TCC, also urothelial cell carcinoma or UCC) is a type of cancer that typically occurs in the urinary system: the kidney, urinary bladder, and accessory organs. It is the most common type of bladder cancer and cancer of the ureter, urethra, and urachus. It is the second most common type of kidney cancer, but accounts for only five to 10 percent of all primary renal malignant tumors.

TCC arises from the transitional epithelium, a tissue lining the inner surface of these hollow organs. It can extend from the kidney collecting system to the bladder – “Creeping Tumor”.

When the term “urothelial” is used, it specifically refers to a carcinoma of the urothelium, meaning a TCC of the urinary system.

Translocation Renal Cell Carcinoma

Xp11 translocation renal cell carcinomas (RCCs) are a distinctive subtype of RCC characterized by chromosomal translocations with breakpoints involving the TFE3 transcription factor gene, which maps to the Xp11.2 locus. The result is a fusion of the TFE3 transcription factor gene with one of multiple reported genes including ASPSCR1 ( ASPL), PRCC, NonO (p54nrb), SFPQ (PSF), and CLTC (Table 1). The three most common Xp11 translocation RCCs are those bearing the t(X;1)(p11.2;q21) which fuses the PRCC and TFE3 genes, the t(X;17)(p11.2;q25) which fuses the ASPSCR1 and TFE3 genes , and the t(X;1)(p11.2;p34) which fuses the SFPQ (PSF) and TFE3 genes. The ASPSCR1-TFE3 gene fusion is the same gene fusion found in alveolar soft part sarcoma (ASPS), a rare pediatric neoplasm of uncertain histogenesis. However, the translocation in Xp11 translocation RCC is balanced, which may contribute to the differences seen at the clinical and histopathologic levels between Xp11 translocation RCC and ASPS. Other reported but rare translocations are the inv (X)(p11.2;q12) which fuses the NonO (p54nrb) and TFE3 genes; the t(X;17)(p11.2;q23) which fuses the CLTC and TFE3 genes5 , and the t(X;3)(p11.2;q23)6 which fused the PARP14 and TFE3 genes. Variant translocations with no known fusion partner include t(X;10)(11.2;q23).

Xp11 translocation RCC were first recognized in children. Although RCC accounts for less than 5% of renal neoplasms in children, Xp11 translocation RCCs constitute a significant percentage of these cases. Approximately 40% of pediatric RCC have been classified as Xp11 translocation RCC, with a range from 20% to 75% of pediatric RCC cases among different series. The higher frequencies have generally come from single institution series, which may be less biased than multi-institution, tumor-repository based series.

The frequency of Xp11 translocation RCC in adults may be underestimated, perhaps due to morphological overlap with more common adult RCC subtypes, such a conventional clear cell RCC and papillary RCC. The frequency ranges from 1-4% in different studies. While Xp11 translocation RCC is therefore on a percentage basis rare in adults, RCC is overall much more common in adults than in children. If there are approximately 30,000 new cases of RCCs in adults each year, 4.2 % of 30,000 cases would total 1,260 adult Xp11 translocation RCC per year. In contrast, 40% of the 25 pediatric RCC in the United States would total 10 pediatric Xp11 translocation RCC per year. Thus, adult Xp11 translocation RCC may outnumber pediatric Xp11 translocation RCC by orders of magnitude due to the much higher incidence of RCC in the adult population.

Prior exposure to cytotoxic chemotherapy is currently the only known risk factor for development of Xp11 translocation RCC: up to 15% of patients with these tumors had a history of prior chemotherapy exposure. Indications for chemotherapy have included Wilms tumor, Ewing sarcoma, systemic lupus erythematosus (SLE), acute leukemia, and bone marrow transplant. The post-chemotherapy interval ranged from 4-13 years, though more recent studies have documented occurrence of Xp11 translocation RCC within 2 years of chemotherapy. All reported patients received either a DNA topoisomerase II inhibitor and/or an alkylating agent. Although they have differing mechanisms of action, both cytotoxic agents break DNA, which may initiate repair or recombination mechanisms that permit a chromosome translocation to occur.

Transplacental infections

Transplacental infections: An infection that passes from the mother to the fetus via the placenta. A large variety of infections can occur like this and the type and severity of symptoms can vary greatly depending on the type of infection and the stage of fetal development at which infection occurs. Examples of transplacental infections include cytomegalovirus, herpes virus, hepatitis, syphilis, toxoplasmosis and rubella.

Transposition of great arteries

Transposition of the great arteries is a congenital (present at birth) heart defect. Due to abnormal development of the fetal heart during the first 8 weeks of pregnancy, the large vessels that take blood away from the heart to the lungs, or to the body, are improperly connected. Normally, oxygen-poor (blue) blood returns to the right atrium from the body, travels to the right ventricle, then is pumped through the pulmonary artery into the lungs where it receives oxygen. Oxygen-rich (red) blood returns to the left atrium from the lungs, passes into the left ventricle, and then is pumped through the aorta out to the body.

Transthyretin Amyloid Cardiomyopathy (ATTR-CM)

Transthyretin amyloid cardiomyopathy is a rare but severe cause of restrictive cardiomyopathy, caused by the accumulation of transthyretin fibrils in the myocardium. It can present with new or worsening heart failure or new conduction system disease. Due to the lack of knowledge and efficient diagnostic modalities, this disease was often missed in clinical settings. However, with the advent of contemporary cardiac imaging techniques and effective therapeutic options, early diagnosis and treatment are possible. This activity reviews the pathophysiology, diagnosis, and treatment of Transthyretin amyloid cardiomyopathy and highlights the role of the interprofessional team in evaluating and treating patients with this condition.

Transverse limb deficiency hemangioma

Transverse limb deficiency hemangioma (medical condition): See Transverse limb deficiency - hemangioma (disease information). Transverse limb deficiency - hemangioma: A rare disorder characterized by missing or short bones in a limb as well as a hemangioma

Transverse myelitis

Transverse myelitis is a neurological condition in which the spinal cord is inflamed. The inflammation damages nerve fibers, and causes them to lose their myelin coating leading to decreased electrical conductivity in the central nervous system. Transverse implies that the inflammation extends across the entire width of the spinal cord. Partial transverse myelitis and partial myelitis are terms used to define inflammation of the spinal cord that affects part of the width of the spinal cord.

Treacher Collins syndrome

Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about one in 50,000 births. The typical physical features include downward-slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.

Tremor hereditary essential- 1

Tremor hereditary essential, 1: An inherited movement disorder involving tremors which occurs mainly in the arms but other parts of the body are often involved. Any kind of stress on the body such as hunger and tiredness can aggravate the condition.

Tremor hereditary essential- 2

Tremor hereditary essential, 2: An inherited movement disorder involving tremors. Any kind of stress on the body such as hunger and tiredness can aggravate the condition.

Treponema infection

Treponema infection: A rare infectious diseases which is transmitted through sexual contact and caused by Treponema pallidum (a spirochete bacterium). Untreated cases can result in severe complications and even death.

Trichinellosis

Trichinosis, also called trichinellosis, or trichiniasis, is a parasitic disease caused by eating raw or undercooked pork and wild game infected with the larvae of a species of roundworm Trichinella spiralis, commonly called the trichina worm. The few cases in the United States are mostly the result of eating undercooked game, bear meat, or home reared pigs. It is most common in the developing world and where pigs are commonly fed raw garbage

Tricho onychic dysplasia

Tricho-onychic dysplasia: A rare genetic syndrome characterized by hair and nail abnormalities.

Tricho-dento-osseous syndrome

A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities. There are two different subtypes with type I being distinguished from type II by the presence of a small head and increased density in the long bones

Tricho-hepato-enteric syndrome

Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities

Trichoepithelioma multiple familial

An inherited skin disorder characterized by a number of small tumors that occur on the face. The number of tumors is variable with most of the face being covered in some cases.

Trichofolliculoma

A benign hair tumor which looks like a small lump with a tuft of hair growing out of it. The hair is often white and short. They often occur around the nose area.

Trichomalacia

A rare genetic condition resulting in patchy hair loss in children. It is an abnormality of the hair shaft and can be due to a compulsive habit of pulling hair on the head or even eyelashes and eyebrows

Trichomegaly cataract hereditary spherocytosis

A rare syndrome characterized mainly by cataracts, excessive eyelash growth and and a blood abnormality (the red blood cells are spherical instead of doughnut shaped which makes them fragile).